Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Katharine M. L. Forrest; Safa Al-Sarraj; Caroline Sewry; Stefan Buk; S. Veronica Tan; Matthew Pitt; Andrew Durward; Marilyn McDougall; Melita Irving; Michael G. Hanna; Emma Matthews; Anna Sarkozyi; Judith Hudson; Rita Barresi; Kate Bushby; Heinz Jungbluth; Elizabeth  Wraige

doi:10.1016/j.nmd.2010.11.003

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Katharine M. L. Forrest, Safa Al-Sarraj, Caroline Sewry, Stefan Buk, S. Veronica Tan, Matthew Pitt, Andrew Durward , Marilyn McDougall, Melita Irving, Michael G. Hanna, Emma Matthews, Anna Sarkozyi, Judith Hudson, Rita Barresi, Kate Bushby, Heinz Jungbluth, Elizabeth Wraige

Basic and Clinical Neuroscience

Research output: Contribution to journal › Article › peer-review

56 Citations (Scopus)

Abstract

Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates alpha B-crystallin as a potent modifier of muscle contractility.

Original language	English
Pages (from-to)	37 - 40
Number of pages	4
Journal	Neuromuscular Disorders
Volume	21
Issue number	1
DOIs	https://doi.org/10.1016/j.nmd.2010.11.003
Publication status	Published - Jan 2011

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Forrest, K. M. L., Al-Sarraj, S., Sewry, C., Buk, S., Tan, S. V., Pitt, M., Durward , A., McDougall, M., Irving, M., Hanna, M. G., Matthews, E., Sarkozyi, A., Hudson, J., Barresi, R., Bushby, K., Jungbluth, H., & Wraige, E. (2011). Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscular Disorders, 21(1), 37 - 40. https://doi.org/10.1016/j.nmd.2010.11.003

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title = "Infantile onset myofibrillar myopathy due to recessive CRYAB mutations",

abstract = "Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates alpha B-crystallin as a potent modifier of muscle contractility.",

author = "Forrest, {Katharine M. L.} and Safa Al-Sarraj and Caroline Sewry and Stefan Buk and Tan, {S. Veronica} and Matthew Pitt and Andrew Durward and Marilyn McDougall and Melita Irving and Hanna, {Michael G.} and Emma Matthews and Anna Sarkozyi and Judith Hudson and Rita Barresi and Kate Bushby and Heinz Jungbluth and Elizabeth Wraige",

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doi = "10.1016/j.nmd.2010.11.003",

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Forrest, KML, Al-Sarraj, S, Sewry, C, Buk, S, Tan, SV, Pitt, M, Durward , A, McDougall, M, Irving, M, Hanna, MG, Matthews, E, Sarkozyi, A, Hudson, J, Barresi, R, Bushby, K, Jungbluth, H & Wraige, E 2011, 'Infantile onset myofibrillar myopathy due to recessive CRYAB mutations', Neuromuscular Disorders, vol. 21, no. 1, pp. 37 - 40. https://doi.org/10.1016/j.nmd.2010.11.003

TY - JOUR

T1 - Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

AU - Forrest, Katharine M. L.

AU - Al-Sarraj, Safa

AU - Sewry, Caroline

AU - Buk, Stefan

AU - Tan, S. Veronica

AU - Pitt, Matthew

AU - Durward , Andrew

AU - McDougall, Marilyn

AU - Irving, Melita

AU - Hanna, Michael G.

AU - Matthews, Emma

AU - Sarkozyi, Anna

AU - Hudson, Judith

AU - Barresi, Rita

AU - Bushby, Kate

AU - Jungbluth, Heinz

AU - Wraige, Elizabeth

PY - 2011/1

Y1 - 2011/1

N2 - Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates alpha B-crystallin as a potent modifier of muscle contractility.

AB - Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates alpha B-crystallin as a potent modifier of muscle contractility.

U2 - 10.1016/j.nmd.2010.11.003

DO - 10.1016/j.nmd.2010.11.003

M3 - Article

VL - 21

SP - 37

EP - 40

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 1

ER -

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Abstract

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