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133. Distinct mutations of SGCA and CAPN3 of limb girdle muscular dystrophy within the same puertorican family

✍ Scribed by Y.Z. Vazquez Perez; B. Deliz; S. Pardo; G. Alfonso Mendez


Book ID
116371415
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
37 KB
Volume
123
Category
Article
ISSN
1388-2457

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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 Β± 3.1 years (mean Β± SD), and loss of ambulance occurred at 38.5 Β± 2.1 years. Muscle atrophy was predominant in