Co-segregation of LMNA and PMP22 gene mutations in the same family.
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.
Pegoraro
Elena
E
Department of Neurosciences, University of Padova, via Giustiniani 5, Italy. elena.pegoraro@unipd.it
Gavassini
Bruno F
BF
Benedetti
Sara
S
Menditto
Immacolata
I
Zara
Gabriella
G
Padoan
Roberta
R
Mostacciuolo
Maria Luisa
ML
Ferrari
Maurizio
M
Angelini
Corrado
C
D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology
C494847:LMNA protein, human; D034904:Lamin Type A; D009185:Myelin Proteins; C073687:PMP22 protein, human