Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Neuromuscular Disorders

Volumn 26, Issue 4-5, 2016, Pages 292-299

  Savarese, Marco ^a,b   Musumeci, Olimpia ^c   Giugliano, Teresa ^a,b   Rubegni, Anna ^d   Fiorillo, Chiara ^d   Fattori, Fabiana ^e   Torella, Annalaura ^a,b   Battini, Roberta ^d   Rodolico, Carmelo ^c   Pugliese, Aniello ^f   Piluso, Giulio ^a   Maggi, Lorenzo ^g   D'Amico, Adele ^e   Bruno, Claudio ^h   Bertini, Enrico ^e   Santorelli, Filippo Maria ^d   Mora, Marina ^g   Toscano, Antonio ^c   Minetti, Carlo ^h   Nigro, Vincenzo ^a,b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f CARDARELLI HOSPITAL   (Italy)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h G GASLINI INSTITUTE   (Italy)

Author keywords

Abnormal genital development; CGH array; MTM1 gene; Next generation sequencing; X linked myotubular myopathy

Indexed keywords

ADULT; ARTICLE; CENTRONUCLEAR MYOPATHY; CHROMOSOME DELETION; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MTM1 GENE; NEXT GENERATION SEQUENCING; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME; X LINKED MYOTUBULAR MYOPATHY; BIOPSY; CASE REPORT; CHILD; COMPARATIVE STUDY; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; HETEROZYGOTE; INFANT; LEG; MUSCLE DISEASE; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PROCEDURES; SEXUAL DEVELOPMENT; SKELETAL MUSCLE; WESTERN BLOTTING;

MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ADULT; BIOPSY; BLOTTING, WESTERN; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEG; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SEX CHARACTERISTICS;

EID: 84962516913     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2016.02.004     Document Type: Article

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