Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly establi...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, M ónica Zufiria, Oihane Jaka, Adolfo López de Munain and Amets Sáenz Tags: Research Source Type: research
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