POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

Journal of Medical Genetics

Volumn 51, Issue 4, 2014, Pages 275-282

  von Renesse, Anja ^a   Petkova, Mina V ^a   Lützkendorf, Susanne ^a   Heinemeyer, Jan ^a,b   Gill, Esther ^a   Hübner, Christoph ^a   von Moers, Arpad ^c   Stenzel, Werner ^a   Schuelke, Markus ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Altonaer Kinderkrankenhaus   (Germany)

^c DRK KLINIKEN BERLIN WESTEND   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEROSIN; PHOSPHOTRANSFERASE; PROTEIN O MANNOSYL KINASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; EVOKED BRAIN STEM RESPONSE; EXOME; FEMALE; GENE MAPPING; HEARING DISORDER; HUMAN; HUMAN TISSUE; HYPOMYELINATION; IMMUNOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYELIN DEFICIENCY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SIBLING; YOUNG ADULT;

CLINICAL GENETICS; GENOME-WIDE; MOLECULAR GENETICS; MUSCLE DISEASE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HEARING LOSS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; LAMININ; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYELIN SHEATH; PEDIGREE; PROTEIN KINASES; YOUNG ADULT;

EID: 84896544876     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102236     Document Type: Article

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