A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2090-2441
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
Dudzik, Aleksandra
Nedza, Weronika
Końska, Katarzyna
Starzec, Katarzyna
Tomasik, Tomasz
Grudzień, Andrzej
Jagła, Mateusz
Durlak, Wojciech
Kwinta, Przemko
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s43042-021-00140-5
- URN
-
urn:nbn:de:101:1-2021032711061497000561
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:44 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Dudzik, Aleksandra
- Nedza, Weronika
- Końska, Katarzyna
- Starzec, Katarzyna
- Tomasik, Tomasz
- Grudzień, Andrzej
- Jagła, Mateusz
- Durlak, Wojciech
- Kwinta, Przemko
- SpringerLink (Online service)
Ähnliche Objekte (12)
Critical Illness Myopathy: Diagnostic Approach and Resulting Therapeutic Implications
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
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
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
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
Critical Illness Myopathy: Diagnostic Approach and Resulting Therapeutic Implications
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
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
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
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
Critical Illness Myopathy: Diagnostic Approach and Resulting Therapeutic Implications
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
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
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
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