Absent muscle fiber dysferlin

MedGen UID:: 868239
•Concept ID:: C4022631
•: Finding

Synonym:	Absent muscle fibre dysferlin

HPO:	HP:0030114

Definition

Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Absent muscle fiber dysferlin

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Abnormal muscle fiber morphology
      - Abnormal muscle fiber protein expression
        Abnormal muscle fiber dysferlin
        Absent muscle fiber dysferlin

Recent clinical studies

Etiology

Impaired muscle spindle function in murine models of muscular dystrophy.

Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Bastian A, Goebel HH
Rom J Intern Med 2010;48(4):377-84. PMID: 21528768

See all (2)

Diagnosis

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Bastian A, Goebel HH
Rom J Intern Med 2010;48(4):377-84. PMID: 21528768

See all (1)

Clinical prediction guides

Impaired muscle spindle function in murine models of muscular dystrophy.

Gerwin L, Rossmanith S, Haupt C, Schultheiß J, Brinkmeier H, Bittner RE, Kröger S
J Physiol 2020 Apr;598(8):1591-1609. Epub 2020 Feb 21 doi: 10.1113/JP278563. PMID: 32003874

Telethonin protein expression in neuromuscular disorders.

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M
Biochim Biophys Acta 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. PMID: 12379311

See all (2)

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Absent muscle fiber dysferlin

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Table of contents

Clinical resources

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Reviews

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