Premium
Clinical, pathological, and genetic features of limb‐girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families
Author(s) -
Kawai Hisaomi,
Akaike Masashi,
Kunishige Makoto,
Inui Toshio,
Adachi Katsuhito,
Kimura Chiyomi,
Kawajiri Masakazu,
Nishida Yoshihiko,
Endo Itsuro,
Kashiwagi Setsuko,
Nishino Hiroshi,
Fujiwara Tsutomu,
Okuno Shiro,
Roudaut Carinne,
Richard Isabelle,
Beckmann Jacques S.,
Miyoshi Kazuo,
Matsumoto Toshio
Publication year - 1998
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co;2-1
Subject(s) - limb girdle muscular dystrophy , muscular dystrophy , frameshift mutation , pathological , mutation , muscle atrophy , atrophy , calpain , medicine , genetics , biology , anatomy , endocrinology , gene , biochemistry , enzyme
We report on the clinical, pathological, and genetic features of 7 patients with limb‐girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca 2+ ‐binding domain. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1493–1501, 1998