Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Brain

Volumn 137, Issue 4, 2014, Pages

  Pfeffer, Gerald ^a,b   Griffin, Helen ^a   Pyle, Angela ^a   Horvath, Rita ^a,b   Chinnery, Patrick F ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; FIBRONECTIN; PHOSPHOTRANSFERASE; MUSCLE PROTEIN; PROTEIN KINASE;

FAMILY STUDY; GENE MUTATION; GENE SEGREGATION; GENETIC DISORDER; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HETEROZYGOSITY; HUMAN; LETTER; MYOPATHY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; RESPIRATORY FAILURE; COMPLICATION; FEMALE; GENETICS; MALE; MUSCLE DISEASE; MUTATION;

FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; PROTEIN KINASES; RESPIRATORY INSUFFICIENCY;

EID: 84897847802     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt306     Document Type: Letter

References (9)

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3. Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005; 308: 1599-603.
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7. Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2013, in press.
8. Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012; 135: 1695-713.
9. Toro C, Olive M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, et al. Exome sequencing identifies titin mutations causing hereditary myop-athy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 2013; 13: 29.