Abstract
We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no abnormalities but short-time-inversion-recovery (STIR) sequences revealed a striking myoedema in gastrocnemius and hamstring muscles at the age of 5. Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene (DYSF) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings. This new phenotype widens the clinical spectrum of dysferlin myopathies.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution / genetics
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Biopsy
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Child, Preschool
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Creatine Kinase / analysis
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Creatine Kinase / metabolism
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DNA Mutational Analysis
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Dysferlin
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Edema / genetics
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Edema / pathology
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Edema / physiopathology
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Magnetic Resonance Imaging
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Male
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Membrane Proteins / genetics*
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Muscle Proteins / genetics*
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Muscle Weakness / genetics
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Muscle Weakness / pathology
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / physiopathology
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Muscular Diseases / congenital*
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Muscular Diseases / genetics*
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Muscular Diseases / physiopathology
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Mutation / genetics*
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Phenotype
Substances
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DYSF protein, human
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Dysferlin
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Genetic Markers
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Membrane Proteins
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Muscle Proteins
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Creatine Kinase