Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

American Journal of Human Genetics

Volumn 72, Issue 5, 2003, Pages 1141-1153

  Azzedine, H ^a   Bolino, A ^b   Taieb T ^c   Birouk, N ^d   Di Duca, M ^b   Bouhouche, A ^d   Benamou, S ^c   Mrabet, A ^e   Hammadouche, T ^a   Chkili, T ^d   Gouider, R ^e   Ravazzolo, R ^b   Brice, A ^a   Laporte, J ^f   LeGuern, Eric ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF GENOA   (Italy)

^c SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^d IBN SINA HOSPITAL   (Morocco)

^e Institut National de Neurologie Tunisia   (Tunisia)

^f INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; MYOTUBULARIN RELATED PROTEIN; MYOTUBULARIN RELATED PROTEIN 13; MYOTUBULARIN RELATED PROTEIN 2; PHOSPHATASE; PHOSPHOINOSITIDE PHOSPHATASE; PROTEIN; PSEUDOPHOSPHATASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AQUEOUS HUMOR FLOW; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTRONUCLEAR MYOPATHY; CHROMOSOME 11P; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DEMYELINATING DISEASE; ENZYME ACTIVITY; EXPRESSED SEQUENCE TAG; GENE; GENE MAPPING; GENE MUTATION; GENE MYOTUBULARIN RELATED 5; GENE SBF1; GENETIC TRAIT; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MOROCCO; MYOTUBULARIN RELATED 13 GENE; NERVE BIOPSY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PERIPHERAL NEUROPATHY; PHYLOGENY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; TRABECULAR MESHWORK; TUNISIA; X CHROMOSOME LINKAGE;

EID: 0038744272     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375034     Document Type: Article

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