Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2

Annals of Neurology

Volumn 79, Issue 4, 2016, Pages 659-672

  Higuchi, Yujiro ^a   Hashiguchi, Akihiro ^a   Yuan, Junhui ^a   Yoshimura, Akiko ^a   Mitsui, Jun ^b   Ishiura, Hiroyuki ^b   Tanaka, Masaki ^b   Ishihara, Satoshi ^a,c   Tanabe, Hajime ^a   Nozuma, Satoshi ^a   Okamoto, Yuji ^a   Matsuura, Eiji ^a   Ohkubo, Ryuichi ^a,d   Inamizu, Saeko ^e   Shiraishi, Wataru ^e   Yamasaki, Ryo ^e   Ohyagi, Yasumasa ^e   Kira, Jun Ichi ^e   Oya, Yasushi ^f   Yabe, Hayato ^g   Nishikawa, Noriko ^g   Tobisawa, Shinsuke ^h   Matsuda, Nozomu ⁱ   Masuda, Masayuki ^j   Kugimoto, Chiharu ^k   Fukushima, Kazuhiro ^l   Yano, Satoshi ^m   Yoshimura, Jun ⁿ   Doi, Koichiro ⁿ   Nakagawa, Masanori ^o   Morishita, Shinichi ⁿ   Tsuji, Shoji ^b   Takashima, Hiroshi ^a   more..

^a KAGOSHIMA UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c UNIVERSITY OF THE RYUKYUS   (Japan)

^d Fujimoto Hospital   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^g EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

ⁱ FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^j TOKYO MEDICAL UNIVERSITY   (Japan)

^k YOKOHAMA CITY UNIVERSITY   (Japan)

^l SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^m SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁿ UNIVERSITY OF TOKYO   (Japan)

^o KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; COMPLEMENTARY DNA; CYSTEINE; GENOMIC DNA; GLUTAMINE; MEMBRANE METALLOENDOPEPTIDASE; NUCLEOTIDE; PERIPHERAL MYELIN PROTEIN 22; TRYPTOPHAN;

ADULT; AGED; ALZHEIMER DISEASE; ALZHEIMER DISEASE ASSESSMENT SCALE; ARTICLE; AXONAL NEUROPATHY; CHARCOT MARIE TOOTH DISEASE TYPE 2; CLINICAL FEATURE; DYSESTHESIA; ENZYME DEGRADATION; FEMALE; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LATE ONSET DISORDER; LOSS OF FUNCTION MUTATION; LOWER LIMB; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MOLECULAR DIAGNOSIS; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE BIOPSY; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NERVE; PERONEUS NERVE PARALYSIS; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE GENE; SENSORY DYSFUNCTION; SENSORY NEUROPATHY; TIBIALIS ANTERIOR MUSCLE; ULNAR NERVE; WHOLE EXOME SEQUENCE; EXOME; GENETICS; JAPAN; MIDDLE AGED; MUTATION; PHENOTYPE;

AGED; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; NEPRILYSIN; PHENOTYPE;

EID: 84961275729     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24612     Document Type: Article

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