Limb Girdle Muscular Dystrophy Type 2G
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Definition and Characteristics
Autosomal recessive, relatively mild form of progressive neuromuscular disorder with a wide spectrum of inter- and intra-familial clinical variability. The age at onset ranges from 9 to 15 years old and loss of ambulation occurs during the third or fourth decade in about 30% of the patients. Clinical features include proximal involvement and marked weakness and/or atrophy in the distal muscles of the legs. Asymmetric calf hypertrophy is a common sign. Heart involvement is not rare. Serum CK is 3-fold to 30-fold increased. Muscle biopsy shows a dystrophic pattern, including rimmed vacuoles.
T-CAP, mapped at 17q11–12. One prevalent pathogenic change was identified in seven families in a...