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Miyoshi myopathy

An autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness and atrophy affecting the upper and lower limbs but sparing the intrinsic hand muscles. The SKELETAL MUSCLES are particularly affected and progression can involve the thigh and gluteal muscles. Patients have difficulty walking, but usually remain ambulatory. Serum CREATINE KINASE is increased and muscle biopsies show myopathic and dystrophic changes with NECROSIS. Mutations in the DYSF gene have been identified. OMIM: 254130
Also Known As:
Miyoshi Muscular Dystrophy 1; Miyoshi distal myopathy; Miyoshi myopathy 1; Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive; Muscular dystrophy, distal, late onset, autosomal recessive; mmd1 myopathy
Networked: 146 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. type 2B Limb-girdle muscular dystrophy
2. Muscular Diseases (Myopathy)
3. Walker-Warburg Syndrome
4. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
5. Sarcoglycanopathies

Experts

1. Nishino, Ichizo: 8 articles (10/2015 - 06/2003)
2. Brown, Robert H: 7 articles (04/2019 - 01/2002)
3. Aoki, Masashi: 7 articles (04/2013 - 12/2002)
4. Takahashi, Toshiaki: 7 articles (04/2013 - 12/2002)
5. Bloch, Robert J: 6 articles (01/2022 - 11/2009)
6. Krahn, Martin: 6 articles (04/2019 - 08/2005)
7. Hayashi, Yukiko K: 6 articles (10/2015 - 04/2003)
8. Richard, Isabelle: 5 articles (01/2012 - 01/2007)
9. Bushby, Kate: 5 articles (02/2011 - 03/2007)
10. Anderson, L V: 5 articles (04/2008 - 04/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Miyoshi myopathy:
1. DysferlinIBA
2. Proteins (Proteins, Gene)FDA Link
3. Mutant Proteins (Protein, Mutant)IBA
4. Dystroglycans (Dystroglycan)IBA
5. DystrophinIBA
6. Glycoproteins (Glycoprotein)IBA
7. Membrane Proteins (Integral Membrane Proteins)IBA
8. Creatine Kinase (Creatine Phosphokinase)IBA
04/01/2003 - "She had typical features of Miyoshi myopathy (MM); i.e., young adult onset, dominant involvement of calf muscles and markedly elevated serum creatine kinase (CK). "
02/01/2004 - "Except for Miyoshi myopathy, which has a striking elevated serum creatine kinase level and the typical findings of muscular dystrophy, most of the distal myopathies have normal or midly elevated creatine kinase levels and share the common pathologic feature of rimmed vacuoles."
07/01/1997 - "The AR distal muscular dystrophies originally included two subgroups, Miyoshi myopathy, characterized mainly by extremely elevated serum creatine kinase (CK) activity and by a dystrophic muscle pattern, and Nonaka myopathy, which is distinct from the others because of the normal to slightly elevated serum CK levels and a myopathic muscle pattern with rimmed vacuoles. "
10/01/2006 - "Fifteen patients from 9 families (10 males and 5 females; age range, 16-42 years) who had Miyoshi myopathy with onset of calf and shin muscle wasting between the ages of 9 and 28 years and a myopathic pattern at electromyography, moderately high serum creatine kinase levels, and absence of dysferlin at immunohistochemical staining. "
12/01/2017 - "Comparative modeling of mutated and wild-type protein was carried out by PyMOL tool.  Results: Clinical investigations of an affected individual showed typical features of Miyoshi myopathy (MM) like elevated serum creatine kinase (CK) levels, distal muscle weakness, myopathic changes in electromyography (EMG) and muscle histopathology. "
9. AnoctaminsIBA
10. Laminin (Merosin)IBA

Therapies and Procedures

1. Therapeutics
2. Transplantation