Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 9, 2014, Pages 1058-1060

  Ong, Royston W ^a   AlSaman, Abdulaziz ^b,c   Selcen, Duygu ^d   Arabshahi, Arash ^a   Yau, Kyle S ^a   Ravenscroft, Gianina ^a   Duff, Rachael M ^a   Atkinson, Vanessa ^e   Allcock, Richard J ^a,f   Laing, Nigel G ^a,e  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d Mayo Clinic College of Medicine   (United States)

^e PATHWEST LABORATORY MEDICINE   (Australia)

^f ROYAL PERTH HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COFILIN 2; CREATINE KINASE; DNA;

APNEA; ARTIFICIAL VENTILATION; BASE PAIRING; CASE REPORT; COFILIN 2 GENE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; CYANOSIS; DISEASE SEVERITY; ELECTROMYOGRAPHY; FAMILY HISTORY; GENE DELETION; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENOME SIZE; HISTOPATHOLOGY; HOSPITAL READMISSION; HUMAN; HUMAN TISSUE; HYPOTENSION; IMMUNOHISTOCHEMISTRY; INFANT; INTENSIVE CARE UNIT; LETTER; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEMALINE MYOPATHY; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY ACIDOSIS; RESPIRATORY DISTRESS;

GENETICS; NEUROMUSCULAR;

ADULT; BASE SEQUENCE; COFILIN 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MYOPATHIES, NEMALINE; PEDIGREE; SEQUENCE DELETION;

EID: 84905498486     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-307608     Document Type: Letter

References (5)

1. Gupta VA, Ravenscroft G, Shaheen R, et al. Identification of KLHL41 mutations implicates BTB-Kelch-mediated Ubiquitination as an alternate pathway to Myofibrillar disruption in Nemaline myopathy. Am J Hum Genet 2013;93:1108-17.
2. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nature reviews. Mol Cell Biol 2004;5:89-99. (Pubitemid 38160252)
3. Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007;80:162-7. (Pubitemid 46047659)
4. Ockeloen CW, Gilhuis HJ, Pfundt R, et al. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord 2012;22:632-9.
5. Agrawal PB, Joshi M, Savic T, et al. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 2012;21:2341-56.