Think worldwide: Hereditary myopathy with early respiratory failure (HMERF) may not be rare

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 3, 2014, Pages 248-

  Uruha, Akinori ^a,b   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BREATHING MUSCLE; DISEASE ASSOCIATION; EXON; GENE; GENE MUTATION; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HUMAN; MUTATIONAL ANALYSIS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEUROMUSCULAR DISEASE; NOTE; PERONEUS MUSCLE; POPULATION RISK; PRIORITY JOURNAL; PROTEIN DOMAIN; SEMITENDINOUS MUSCLE; TINTIN GENE;

MUSCLE DISEASE;

CONNECTIN; FEMALE; FOUNDER EFFECT; GENETIC DISEASES, INBORN; HUMANS; MALE; MUSCULAR DISEASES; RESPIRATORY INSUFFICIENCY;

EID: 84896726569     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-305394     Document Type: Note

References (7)

1. Palmio J, Evilä A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry 2014;85:345-53.
2. Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2014;85:331-8.
3. Edström L, Thornell LE, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990;96:211-28. (Pubitemid 20187701)
4. Ohlsson M, Hedberg C, Bradvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012;135:1682-94.
5. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012;135: 1695-713.
6. Izumi R, Niihori T, Aoki Y, et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet. Published Online First: 28 February 2013. doi: 10.1038/jhg.2013.9.
7. Toro C, Olivé M, Dalakas MC, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 2013;13:29.