[HTML][HTML] Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

LG Goldfarb, MC Dalakas - The Journal of clinical …, 2009 - Am Soc Clin Investig
LG Goldfarb, MC Dalakas
The Journal of clinical investigation, 2009Am Soc Clin Investig
Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure,
and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this
Review, one of the newly identified myopathies is desminopathy, a disease caused by
dysfunctional mutations in desmin, a type III intermediate filament protein, or αB-crystallin, a
chaperone for desmin. The range of clinical manifestations in patients with desminopathy is
wide and may overlap with those observed in individuals with other myopathies. Awareness …
Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or αB-crystallin, a chaperone for desmin. The range of clinical manifestations in patients with desminopathy is wide and may overlap with those observed in individuals with other myopathies. Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications.
The Journal of Clinical Investigation