PubMed · 2004 · 17 citations · 0 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeuromuscular DisordersGenetic DisordersMitochondrial DisordersMuscle DisordersMuscle PathologyMuscular DystrophyLate-onset PresentationMissense MutationsMuscular Dystrophy GeneticsRespiratory InsufficiencySkeletal Muscle Wasting
Several forms of recessive limb girdle muscular dystrophy (LGMD2C-F) are due to mutations in genes coding for sarcoglycans. Clinically, most sarcoglycanopathies present in childhood with skeletal muscle wasting and early loss of ambulation; respiratory insufficiency is rare. However, some cases of LGMD2D with a late onset and a milder course have been reported. In this study, two adult brothers, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory.