Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities
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Desmin is a muscle-specific intermediate filament that provides maintenance of cellular integrity and force transmission . DES gene mutations cause a spectrum of adult-onset disorders, ranging from myopathies with and without cardiac involvement to cardiomyopathy without skeletal muscle involvement . Distal and proximal weakness involving upper and lower limbs muscles are observed in most patients . Desminopathies are usually inherited in an autosomal dominant fashion, predominantly with missense mutations. However, very few families with a recessive mode of inheritance have also been recognized . Desmin immunostaining of normal skeletal muscle shows uniform sarcoplasmic and subsarcolemmal localization, while affected muscles display cytoplasmic aggregates of misfolded filaments and disruption of the myofibrillar apparatus rather than absence of protein , so that individuals with desmin mutations are frequently categorized within the group of disorders known as...
KeywordsForce Vital Capacity Mitochondrial Myopathy Scapular Wing Copy Number Abnormality Congenital Ptosis
We thank the patients and their family for their kind cooperation and Dr. Anna Sarkozy for critical reading of the manuscript. Diagnostic facilities at the Newcastle Muscle Centre are supported by the National Specialized Commissioning Team (NSCT) for Rare Neuromuscular Disorders and Rare Mitochondrial Diseases of Adults and Children. RWT and KB are funded by the MRC Centre for Neuromuscular Diseases.
Conflict of interest
The authors declare that they have no conflicts of interest.
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