Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

Brain

Volumn 124, Issue 5, 2001, Pages 907-915

  Houlden, Henry ^a   King, R H M ^b   Wood, Nicholas W ^a   Thomas, P K ^a   Reilly, Mary M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Dysmyelination; Hereditary neuropathy

Indexed keywords

MYELIN; MYOTUBULARIN RELATED PROTEIN 2; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; MTMR2 PROTEIN, HUMAN; PROTEIN TYROSINE PHOSPHATASE;

5' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RACE; SINGLE NUCLEOTIDE POLYMORPHISM; SURAL NERVE; BIOPSY; CHROMOSOME 11; DISEASE COURSE; GENETIC POLYMORPHISM; GENETICS; INDIA; MUTATION; MYELIN SHEATH; MYELINATED NERVE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PENETRANCE; RECESSIVE GENE; ULTRASTRUCTURE; UNITED KINGDOM;

5' UNTRANSLATED REGIONS; AGE OF ONSET; BIOPSY; CHROMOSOMES, HUMAN, PAIR 11; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENGLAND; GENES, RECESSIVE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INDIA; MUTATION; MYELIN SHEATH; NERVE FIBERS, MYELINATED; PEDIGREE; PENETRANCE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; SURAL NERVE;

EID: 0034743936     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/124.5.907     Document Type: Article

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