Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
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.
Benedetti
S
S
Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy.
Bertini
E
E
Iannaccone
S
S
Angelini
C
C
Trisciani
M
M
Toniolo
D
D
Sferrazza
B
B
Carrera
P
P
Comi
G
G
Ferrari
M
M
Quattrini
A
A
Previtali
S C
SC
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D013497:Sural Nerve / Q000473:pathology
C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins