Abstract
We report here clinical, electrophysiological, and molecular findings in a family affected with two inherited genetic diseases: limb girdle muscular dystrophy type 1B (LGMD1B) and hereditary neuropathy with liability to pressure palsies (HNPP). Members of the family carry a novel missense mutation in the LMNA gene and a nonsense mutation in the PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually seen in HNPP, and electrophysiological findings suggesting an axonal loss in addition to a typical myelinopathy. This study provides further insights into the relevance of lamin A/C in muscle and nerve.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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DNA Mutational Analysis / methods
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Family Health*
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Female
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / pathology
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Hereditary Sensory and Motor Neuropathy / physiopathology
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Humans
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Lamin Type A / genetics*
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Male
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Middle Aged
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Muscle, Skeletal / pathology
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Muscular Dystrophies, Limb-Girdle / genetics*
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Muscular Dystrophies, Limb-Girdle / pathology
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Muscular Dystrophies, Limb-Girdle / physiopathology
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Mutation*
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Myelin Proteins / genetics*
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Neural Conduction / physiology
Substances
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LMNA protein, human
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Lamin Type A
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Myelin Proteins
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PMP22 protein, human