A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2090-2441

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report ; volume:22 ; number:1 ; day:15 ; month:3 ; year:2021 ; pages:1-6 ; date:12.2021
The Egyptian journal of medical human genetics ; 22, Heft 1 (15.3.2021), 1-6, 12.2021

Creator: Dudzik, Aleksandra
Nedza, Weronika
Końska, Katarzyna
Starzec, Katarzyna
Tomasik, Tomasz
Grudzień, Andrzej
Jagła, Mateusz
Durlak, Wojciech
Kwinta, Przemko

Contributor: SpringerLink (Online service)

DOI: 10.1186/s43042-021-00140-5

URN: urn:nbn:de:101:1-2021032711061497000561

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

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Associated

Dudzik, Aleksandra
Nedza, Weronika
Końska, Katarzyna
Starzec, Katarzyna
Tomasik, Tomasz
Grudzień, Andrzej
Jagła, Mateusz
Durlak, Wojciech
Kwinta, Przemko
SpringerLink (Online service)

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A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

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Other Objects (12)

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A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

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Critical Illness Myopathy: Diagnostic Approach and Resulting Therapeutic Implications

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Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

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Gne myopathy: genotype – phenotype correlation and disease progression in an indian cohort

Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

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Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

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