Article Text
Abstract
The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot–Marie–Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.
- CMT
- lamin
- myopathy
- neuropathy
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Footnotes
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Grant support from Italian Telethon (SCP GGP030193; CA no. GTF02009); FISM (SCP 2002/R/42).
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Competing interests: none declared
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Patients’ consent was obtained