Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
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.
Walter
M C
MC
Friedrich-Baur-Institute, Department of Neurology, Gene Center, Ludwig-Maximilians-University of Munich, Germany.
Dekomien
G
G
Schlotter-Weigel
B
B
Reilich
P
P
Pongratz
D
D
Müller-Felber
W
W
Epplen
J T
JT
Huebner
A
A
Lochmüller
H
H
D017668:Age of Onset; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000209:etiology*; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans