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A novel MPZ gene mutation in congenital neuropathy with hypomyelination
Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait. Sural nerve biopsy shows aExpand
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Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations haveExpand
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Somatic mosaicism in Charcot-Marie-Tooth type X disease
The X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type X disease (CMTX) is characterized by distal muscle weakness and atrophy, reduced motor and sensory nerve conduction velocities, asExpand
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Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors reportExpand
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An axonal form of Charcot‐Marie‐Tooth disease with a novel missense mutation in the myelin protein zero gene
Dear Editor, Myelin protein zero (MPZ), a major component of peripheral myelin, is expressed by myelinating Schwann cells (Lemke et al., 1988). Simultaneously to studies on the role of MPZ protein inExpand
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