Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
Bolino
A
A
Wellcome Trust Centre for Human Genetics, Oxford, UK.
Muglia
M
M
Conforti
F L
FL
LeGuern
E
E
Salih
M A
MA
Georgiou
D M
DM
Christodoulou
K
K
Hausmanowa-Petrusewicz
I
I
Mandich
P
P
Schenone
A
A
Gambardella
A
A
Bono
F
F
Quattrone
A
A
Devoto
M
M
Monaco
A P
AP
D017398:Alternative Splicing; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000302:isolation & purification; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D020133:Reverse Transcriptase Polymerase Chain Reaction
D018076:DNA, Complementary; C408986:MTMR2 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin