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Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Katharine M L Forrest1, Safa Al-Sarraj, Caroline Sewry

  • 1Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, London, UK.

Neuromuscular Disorders : NMD
|December 7, 2010
PubMed

Insights

A rare genetic mutation in the alpha B-crystallin (CRYAB) gene can cause severe, early-onset myofibrillar myopathy. This case highlights a recessive inheritance pattern and profound muscle stiffness as a key symptom.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Protein Biochemistry

Background:

  • Mutations in the alpha B-crystallin (CRYAB) gene are associated with rare, autosomal-dominant myofibrillar myopathies.
  • CRYAB encodes a small heat shock protein crucial for cellular protection and protein folding.

Observation:

  • A 4-month-old infant presented with severe muscle stiffness, elevated creatine kinase, and abnormal electromyography findings.
  • Muscle biopsy confirmed myofibrillar myopathy.
  • Genetic analysis revealed homozygous CRYAB mutation c.343delT (p.Ser115ProfsX14).

Findings:

  • This homozygous mutation suggests a severe, recessively inherited form of CRYAB-related myofibrillar myopathy.
  • The patient's profound muscle stiffness indicates CRYAB's significant role in regulating muscle contractility.

Implications:

  • Identifies a novel recessive inheritance pattern for CRYAB-related myopathy.
  • Suggests alpha B-crystallin is a critical factor influencing muscle stiffness and function.
  • Highlights the importance of genetic testing in early-onset neuromuscular disorders with unusual presentations.

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