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About 650 results

ALLMedicine™ Congenital Myopathies Center

Research & Reviews  317 results

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of mul...
https://doi.org/10.1016/j.nmd.2020.09.033
Neuromuscular Disorders : NMD; Schirwani S, Sarkozy A et. al.

Feb 9th, 2021 - Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related E...

Making sense of missense variants in TTN-related congenital myopathies.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882473
Acta Neuropathologica; Rees M, Nikoopour R et. al.

Jan 15th, 2021 - Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and t...

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during ear...
https://doi.org/10.1016/j.nmd.2020.11.014
Neuromuscular Disorders : NMD; Rocha ML, Dittmayer C et. al.

Dec 30th, 2020 - Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a sev...

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
https://doi.org/10.1111/cge.13905
Clinical Genetics REFERENCES; Abbasi-Moheb L, Westenberger A et. al.

Dec 23rd, 2020 - Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been repo...

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
https://doi.org/10.1016/j.pediatrneurol.2020.11.002
Pediatric Neurology; Natera-de Benito D, Ortez C et. al.

Dec 17th, 2020 - Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of hereditary muscular disorders. The distribution of genetic and histologic subtypes has been addressed in only a few cohorts, and the relationship between phenotype...

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Clinicaltrials.gov  327 results

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of mul...
https://doi.org/10.1016/j.nmd.2020.09.033
Neuromuscular Disorders : NMD; Schirwani S, Sarkozy A et. al.

Feb 9th, 2021 - Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related E...

Making sense of missense variants in TTN-related congenital myopathies.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882473
Acta Neuropathologica; Rees M, Nikoopour R et. al.

Jan 15th, 2021 - Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and t...

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during ear...
https://doi.org/10.1016/j.nmd.2020.11.014
Neuromuscular Disorders : NMD; Rocha ML, Dittmayer C et. al.

Dec 30th, 2020 - Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a sev...

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
https://doi.org/10.1111/cge.13905
Clinical Genetics REFERENCES; Abbasi-Moheb L, Westenberger A et. al.

Dec 23rd, 2020 - Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been repo...

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
https://doi.org/10.1016/j.pediatrneurol.2020.11.002
Pediatric Neurology; Natera-de Benito D, Ortez C et. al.

Dec 17th, 2020 - Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of hereditary muscular disorders. The distribution of genetic and histologic subtypes has been addressed in only a few cohorts, and the relationship between phenotype...

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News  1 results

Foundation Develops Congenital Myopathy Guide for Families
https://www.mdedge.com/neurology/article/100405/rare-diseases/foundation-develops-congenital-myopathy-guide-families

Jun 11th, 2015 - The Joshua Frase Foundation has developed a publication titled “The Care of Congenital Myopathy: A Guide for Families” in response to requests from families. This work began as a translation into easily understood language from the Consensus State.

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Patient Education  5 results see all →