September 1, 2007Archives of Neurology

Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2)

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Population

A 66-year-old woman and her 35-year-old daughter with congenital, slowly progressive muscle weakness, facial…

Design

Case_series

Authors

HTHoma TajsharghiUniversity of Skövde MOMonica OhlssonKarolinska University Hospital CLChristopher LindbergSahlgrenska University Hospital

Discussion

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Implication

Links TPM2 Glu41Lys to nemaline myopathy and cap disease; leaves open whether they represent phenotypic variants pending replication.

Structured PICO

Population

A 66-year-old woman and her 35-year-old daughter with congenital, slowly progressive muscle weakness, facial diplegia, bilateral ptosis, long narrow face, high arched palate, and micrognathia.

Outcome

Clinical, morphologic, and genetic findings

Mutations in the TPM2 gene can cause both nemaline myopathy and cap disease, suggesting they are phenotypic variants of the same genetic defect.

Cite This Study

Tajsharghi et al. (2007) studied this question.

synapsesocial.com/papers/6a7bb098351d91d38cc62d91 https://doi.org/10.1001/archneur.64.9.1334

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Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider