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Myofibrillar myopathy with limb-girdle phenotype in a Thai patient

Teerin Liewluck1, Jutatip Kintarak, Tumtip Sangruchi

  • 1Department of Pathology and Neurogenetics Network, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. sitll@mahidol.ac.th

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|March 4, 2009
PubMed

Insights

Myofibrillar myopathy (MFM) is a muscle disorder with varied causes. This case highlights the need for muscle biopsies in diagnosing limb-girdle muscular dystrophy and underscores unknown genetic factors in MFM.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Myofibrillar myopathy (MFM) is a diverse group of inherited muscle disorders.
  • Pathologically, MFM involves myofibrillar breakdown and protein accumulation, particularly Z-disk proteins.
  • Known genetic causes include mutations in ZASP, MYOT, DES, FLNC, and CRYAB.

Observation:

  • A 29-year-old Thai woman presented with autosomal dominant limb-girdle muscular dystrophy (LGMD1).
  • Myopathological findings confirmed MFM, despite no mutations in known MFM-associated genes.
  • The patient had a family history of affected individuals.

Findings:

  • This case demonstrates MFM in a patient initially diagnosed with LGMD1.
  • Genetic analysis did not identify mutations in currently known MFM genes.
  • Phenotypic variability in MFM is significant.

Implications:

  • Muscle biopsy is crucial for diagnosing LGMD1 patients with suspected MFM.
  • The genetic basis for many MFM cases remains unknown.
  • Regular cardiac monitoring is essential for managing MFM patients due to the risk of cardiomyopathy.

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