The unfolding spectrum of inherited distal myopathies

Margherita Milone, Teerin Liewluck

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early-childhood to late-adulthood while the predominant muscle weakness can affect calf, ankle dorsiflexor, or distal upper limb muscles. A spectrum of muscle pathological changes, varying from nonspecific myopathic changes to rimmed vacuoles to myofibrillar pathology to nuclei centralization, have been noted. Likewise, the underlying molecular defect is heterogeneous. In addition, there is emerging evidence that distal myopathies can result from defective proteins encoded by genes causative of neurogenic disorders, be manifestation of multisystem proteinopathies or the result of the altered interplay between different genes. In this review, we provide an overview on the clinical, electrophysiological, pathological, and molecular aspects of distal myopathies, focusing on the most recent developments in the field. Muscle Nerve, 2018.

Original languageEnglish (US)
JournalMuscle and Nerve
StateAccepted/In press - Jan 1 2018


  • distal myopathy
  • multisystem proteinopathy
  • myofibrillar myopathy
  • neuromyopathy
  • rimmed vacuoles

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Fingerprint Dive into the research topics of 'The unfolding spectrum of inherited distal myopathies'. Together they form a unique fingerprint.

Cite this