Abstract
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 a characteristic picture of nonmyelinated and poorly myelinated axons with basal lamina onion bulbs and lack of myelin breakdown products. Several mutations in the MTMR2, PMP22, EGR2, and MPZ genes have been found in patients with CHN. The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics
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Amino Acid Substitution
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Child
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Diseases in Twins
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Exons / genetics
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Genes, Dominant
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Hereditary Central Nervous System Demyelinating Diseases / congenital
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Hereditary Central Nervous System Demyelinating Diseases / genetics*
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Hereditary Central Nervous System Demyelinating Diseases / pathology
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / pathology
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Humans
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Male
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Microscopy, Electron
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Muscle Hypotonia / congenital
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Muscle Hypotonia / genetics
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Mutation, Missense*
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Myelin P0 Protein / chemistry
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Myelin P0 Protein / genetics*
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Nerve Fibers, Myelinated / pathology
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Point Mutation*
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Polymorphism, Single-Stranded Conformational
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Reflex, Abnormal
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Scoliosis / genetics
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Sural Nerve / physiopathology
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Sural Nerve / ultrastructure