Abstract |
In our laboratory, limb-girdle muscular dystrophy (LGMD) accounted for 20% of all patients with muscular dystrophy. To determine the incidence of various forms of LGMD phenotypes, we looked for mutations in the calpain 3 gene and, for deficiencies in dysferlin and sarcoglycan by immunohistochemical studies with specific antibodies on muscle biopsies from patients with probable autosomal recessive inheritance ( LGMD2), which were mostly sporadic cases of LGMD. Fourteen of 276 (5%) patients examined had sarcoglycan complex deficiency ( sarcoglycanopathy) and 21 of 80 (26%) had mutations in the calpain 3 gene. Although we have not performed gene analysis in all patients, 10 of 64 (15%) patients examined had no apparent immunoreactivity against the dysferlin antibody. Thus, approximately 46% of LGMD2 patients had the above 3 distinct disorders, but in 54% the causative defects remain unknown.
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Authors | I Nonaka, N Minami, J Chae, Y K Hayashi, I Nishino, K Arahata |
Journal | Rinsho shinkeigaku = Clinical neurology
(Rinsho Shinkeigaku)
Vol. 41
Issue 12
Pg. 1194-7
(Dec 2001)
ISSN: 0009-918X [Print] Japan |
PMID | 12235836
(Publication Type: Journal Article, Review)
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Chemical References |
- Cytoskeletal Proteins
- DYSF protein, human
- Dysferlin
- Isoenzymes
- Membrane Proteins
- Muscle Proteins
- CAPN3 protein, human
- Calpain
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Topics |
- Calpain
(genetics)
- Cytoskeletal Proteins
(deficiency)
- Dysferlin
- Humans
- Isoenzymes
- Membrane Proteins
- Muscle Proteins
(deficiency)
- Muscular Dystrophies
(etiology)
- Mutation
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