LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

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Autosomal dominant limb-girdle muscular dystrophies (LGMD type 1) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Eight subtypes of LGMD1 (LGMD1A-1H) have been described. Causative mutations are known for seven of them, except for LGMD1H. To date, only two LGMD1G families have been reported, including a Caucasian-Brazilian family and a Uruguayan family. D378N and D378H mutations in HNRPDL gene were found in these two families respectively.

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