An adult with a rare form of congenital fiber type disproportion

Anandan, Charenya; Milone, Margherita

doi:10.1002/mus.25954

Cited by 1 publication

(1 citation statement)

References 13 publications

(19 reference statements)

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“…The majority of patients exhibit their first symptoms very early in life (congenital/neonatal onset forms) and even some few adults with prominent symptoms at a later stage had subtle signs of earlier involvement. This was the case of a 57-year-old patient with TPM3-related nemaline myopathy with his first respiratory symptoms at the age of 40, who had had muscle weakness since early childhood [152], or similarly in a 56-year-old female with TPM2-related CFTD, evaluated for dyspnea and muscle weakness, who had delayed motor milestones, a hoarse voice and an easy fatigability since her early life [153]. It is hypothesized that the mechanism of muscle dysfunction differs depending on the specific TPM3 or TPM2 mutation, which may result in either impaired actin binding or abnormal myofilament calcium sensitivity.…”

Section: Tpm2 and Tpm3-related Myopathiesmentioning

confidence: 99%

Update on Congenital Myopathies in Adulthood

Papadimas

Xirou

Kararizou

et al. 2020

IJMS

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Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.

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Section: Tpm2 and Tpm3-related Myopathiesmentioning

confidence: 99%