Myotubularins and associated neuromuscular diseases

Clinical Lipidology

Volumn 7, Issue 2, 2012, Pages 151-162

  Tronchère, Hélène ^a   Bolino, Alessandra ^b,c   Laporte, Jocelyn ^d   Payrastre, Bernard ^a,e  

^a University Hospital of Toulouse   (France)

^b DULBECCO TELETHON INSTITUTE   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e TOULOUSE UNIVERSITY HOSPITAL   (France)

Author keywords

centronuclear myopathy; Charcot Marie Tooth neuropathy; MTMR; myotubular myopathy; myotubularin; phosphoinositide

Indexed keywords

MYOTUBULARIN DERIVATIVE; PHOSPHOPROTEIN PHOSPHATASE; UNCLASSIFIED DRUG;

APOPTOSIS; AUTOPHAGY; CALCIUM HOMEOSTASIS; CELL PROLIFERATION; CELLULAR DISTRIBUTION; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; CYTOSKELETON; DIMERIZATION; DISEASE ASSOCIATION; ENDOCYTOSIS; ENZYME ACTIVITY; ENZYME LOCALIZATION; EXCITATION CONTRACTION COUPLING; EXOCYTOSIS; GENE FUNCTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MARKER GENE; MEMBRANE BIOLOGY; MEMBRANE STRUCTURE; MTM1 GENE; MTMR13 GENE; MTMR2 GENE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYELINATION; NEUROMUSCULAR DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; REVIEW; SCHWANN CELL; SIGNAL TRANSDUCTION; STRUCTURE ANALYSIS; TRANSPORT VESICLE; X CHROMOSOME LINKED DISORDER;

EID: 84860196138     PISSN: 17460875     EISSN: 17584302     Source Type: Journal    
DOI: 10.2217/clp.12.7     Document Type: Review

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