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Nemaline Myopathies (Nemaline Myopathy)

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A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)

Also Known As:

Nemaline Myopathy; Rod Myopathy; Myopathies, Nemaline; Adult Onset Nemaline Myopathy; Autosomal Dominant Nemaline Myopathy; Autosomal Recessive Nemaline Myopathy; Childhood Onset Nemaline Myopathy; Late Onset Nemaline Myopathy; Nemaline Myopathy, Adult Onset; Nemaline Myopathy, Autosomal Dominant; Nemaline Myopathy, Autosomal Recessive; Nemaline Myopathy, Childhood Onset; Nemaline Myopathy, Late Onset; Rod-Body Myopathy; Myopathies, Rod; Myopathies, Rod-Body; Myopathy, Rod Body; Rod Body Myopathy; Rod Myopathies; Rod-Body Myopathies; Myopathy, Nemaline; Myopathy, Rod; Myopathy, Rod-Body

Networked: 210 relevant articles (2 outcomes, 8 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Muscle Weakness
2.	Central Core Myopathy (Central Core Disease)
3.	Muscular Diseases (Myopathy)
4.	Congenital Structural Myopathies (Centronuclear Myopathy)
5.	Nemaline Myopathies (Nemaline Myopathy)

Experts

1.	Wallgren-Pettersson, Carina: 22 articles (10/2015 - 02/2002)
2.	Laing, Nigel G: 19 articles (09/2014 - 09/2003)
3.	Beggs, Alan H: 18 articles (01/2015 - 03/2003)
4.	Pelin, Katarina: 14 articles (07/2014 - 02/2002)
5.	Lehtokari, Vilma-Lotta: 13 articles (10/2015 - 09/2004)
6.	Granzier, Henk: 13 articles (01/2015 - 07/2009)
7.	North, Kathryn N: 11 articles (07/2014 - 08/2004)
8.	Ottenheijm, Coen A C: 10 articles (01/2014 - 07/2009)
9.	Nowak, Kristen J: 8 articles (02/2013 - 09/2003)
10.	Laing, N G: 8 articles (10/2009 - 12/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nemaline Myopathies:

1.	Tyrosine (L-Tyrosine)FDA Link 06/01/2008 - "Dietary tyrosine supplementation may improve bulbar function, activity levels, and exercise tolerance in nemaline myopathy." 06/01/2008 - "This article discusses 5 patients (4 infants and 1 adolescent) with nemaline myopathy who received dietary supplementation with L-tyrosine (250 to 3000 mg/day). " 06/01/2008 - "Dietary L-tyrosine supplementation in nemaline myopathy." 12/01/2011 - "These results suggest that L-tyrosine may be an effective treatment for muscle weakness and immobility in nemaline myopathy." 12/01/2011 - "Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy."
2.	Melphalan (Alkeran)FDA LinkGeneric 12/02/2014 - "Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT." 08/12/2008 - "Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant."
3.	TropomyosinIBA 09/01/2008 - "Developmental expression studies showed that alpha-tropomyosin(slow) is not expressed at significant levels until after birth, thereby likely explaining the childhood (rather than congenital) disease onset in TPM3 nemaline myopathy. " 08/16/2002 - "This paper represents the first study of this mutation directly on the human isoform of tropomyosin that is involved in nemaline myopathy. " 02/01/2002 - "As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta-tropomyosin 2 gene. " 12/01/2013 - "The slow α-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). " 08/01/2013 - "The effect of the nemaline myopathy-causing E117K mutation in β-tropomyosin (TM) on the structure and function of this regulatory protein was studied. "
4.	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 04/01/2012 - "Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing." 01/01/2011 - "The report enlarges the phenotypic spectrum of "core-rod myopathy" and highlights the morphological variability associated to special RYR1 mutations." 01/01/2011 - "De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins." 04/01/2008 - "Novel RYR1 missense mutation causes core rod myopathy." 07/01/2003 - "In addition, mutations in the ryanodine receptor gene (RYR1) have been associated with core-rod myopathy. "
5.	nebulinIBA 10/01/2015 - "We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. " 09/15/2015 - "Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. " 09/15/2015 - "Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy." 05/01/2015 - "Based on biopsy material, genetic analyses and muscle MRI, we identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. " 05/01/2015 - "Two novel nebulin variants in an adult patient with congenital nemaline myopathy."
6.	Actins (F Actin)IBA 06/01/2000 - "Detailed histological and immunocytochemical studies of this original case demonstrate the typical features of nemaline myopathy, and a mutation in skeletal muscle alpha-actin has recently been identified in this patient. " 07/11/2008 - "Functional effects of nemaline myopathy mutations on human skeletal alpha-actin." 02/01/2007 - "Variable presentation of nemaline myopathy: novel mutation of alpha actin gene." 01/01/2007 - "About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. " 02/01/2006 - "Nemaline Myopathy with Intranuclear Rods is a rare variant of nemaline myopathy, due in almost all instances to mutation of ACTA1, the gene encoding skeletal muscle alpha-actin. "
7.	Proteins (Proteins, Gene)IBA 08/01/2014 - "KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy." 04/01/2014 - "Nemaline myopathy (NM) is a genetically and clinically heterogeneous disorder resulting from a disruption of the thin filament proteins of the striated muscle sarcomere. " 09/01/2006 - "Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. " 04/01/2004 - "Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. " 05/01/2003 - "Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a morphological hallmark as in desminopathy and actinopathy, the latter a subtype among the nemaline myopathies. "
8.	Myosins (Myosin)IBA 04/01/1978 - "Results of recent biochemical studies have shown abnormal myosin in a patient with rod myopathy. " 07/01/2007 - "However, the data of relatively high torques produced at submaximal activation frequencies are compatible with the hypothesis that patients with nemaline myopathy may have an impaired acto-myosin interaction specifically at high levels of activation." 09/01/1983 - "Fast to slow change of myosin in nemaline rod myopathy." 01/01/2012 - "Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness." 09/01/1985 - "Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain band, with a migration rate and antigenic properties identical to that of the adult slow form, as demonstrated by Western blot techniques and by using specific antibody. "
9.	Muscle Proteins (Muscle Protein)IBA 01/01/1984 - "[An electrophoretic study of the muscle proteins in nemaline myopathy: a new method using type-defined freeze-dried sections]." 08/18/2014 - "Mutations in nebulin, a giant muscle protein with 185 actin-binding nebulin repeats, are the major cause of nemaline myopathy in humans. " 03/01/2003 - "We analyzed the possibility of progressive alterations with time and/or disease evolution, such as transformation of type I to type II fiber and rod pattern and distribution in muscle fibers from patients with nemaline myopathy, through a morphometric and immunohistochemical analysis of different muscle protein isoforms. " 08/01/1990 - "In order to investigate the inheritance in congenital nemaline myopathy (CNM), we studied the family histories and pedigrees of 13 patients with CNM from 10 families, and the 20 patients, by physical examination, single fibre electromyography, ultrasonography of muscles, measurement of serum creatine kinase, muscle biopsy, and electrophoresis of muscle proteins. " 05/01/1990 - "We performed 1-dimensional polyacrylamide sodium dodecyl sulfate gradient gel electrophoresis of muscle proteins from 13 patients with congenital nemaline myopathy and 10 controls to examine the alpha-actinin and the distribution of myosin light chains in congenital nemaline myopathy. "
10.	AntibodiesIBA 05/01/1999 - "Since the nebulin gene is located in the candidate gene locus of autosomal recessive nemaline myopathy, 2q21.2-q22, we examined five muscle biopsy specimens with monoclonal and polyclonal antibodies against nebulin in combination with the modified Gomori trichrome stain. " 08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role. "

Therapies and Procedures

1.	Transplants (Transplant) 08/12/2008 - "Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant."
2.	Stem Cell Transplantation 08/12/2008 - "Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy."
3.	Highly Active Antiretroviral Therapy (HAART) 09/01/2005 - "Myopathies in HIV-infected patients are classified as follows: (1) HIV-associated myopathies and related conditions, including HIV polymyositis, inclusion-body myositis, nemaline myopathy, diffuse infiltrative lymphocytosis syndrome (DILS), HIV-wasting syndrome, vasculitic processes, myasthenic syndromes, and chronic fatigue; (2) muscle complications of antiretroviral therapy, including zidovudine and toxic mitochondrial myopathies related to other nucleoside-analogue reverse-transcriptase inhibitors (NRTIs), HIV-associated lipodystrophy syndrome, and immune restoration syndrome related to highly active antiretroviral therapy (HAART); (3) opportunistic infections and tumor infiltrations of skeletal muscle; and (4) rhabdomyolysis. "
4.	Cardiopulmonary Resuscitation (CPR) 09/01/2015 - "The authors report that a new oral interface designed for cardiopulmonary resuscitation and use during anesthesia permitted the successful extubation of an "unweanable" 27-yr-old woman with nemaline rod myopathy to continuous noninvasive ventilatory support. "
5.	Organ Transplantation 03/01/2011 - "A 16-yr-old female with nemaline myopathy affecting cardiorespiratory function, recent organ transplantation, and delayed postoperative ventilatory recovery. " 03/01/2011 - "Inspiratory muscle training in a child with nemaline myopathy and organ transplantation."