The unfolding spectrum of inherited distal myopathies

Muscle & Nerve
Margherita Milone, Teerin Liewluck

Abstract

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 59:283-294, 2019.

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Citations

Mar 23, 2019·Annals of Neurology·Marco SavareseBjarne Udd
Jun 2, 2020·Muscle & Nerve·Stefan NicolauMargherita Milone
Nov 7, 2019·International Journal of Molecular Sciences·Daniela Gois BeghiniAndrea Henriques-Pons
Jan 31, 2020·Frontiers in Neurology·Stefan NicolauElie Naddaf
May 28, 2020·International Journal of Molecular Sciences·George Konstantinos PapadimasConstantinos Papadopoulos
Jan 19, 2021·Brain : a Journal of Neurology·Marcus DeschauerTobias B Haack
Jun 17, 2021·Muscle & Nerve·Stefan NicolauTeerin Liewluck

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