U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive distal myopathy

MedGen UID:
1842267
•Concept ID:
C5680801
•
Disease or Syndrome
Orphanet: ORPHA206653

Professional guidelines

PubMed

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M
J Neuromuscul Dis 2021;8(1):125-136. doi: 10.3233/JND-200547. PMID: 33337384
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Recent clinical studies

Etiology

Gene analysis and clinical features of 22 GNE myopathy patients.
Guo X, Zhao Z, Shen H, Bing Q, Li N, Chen J, Hu J
Neurol Sci 2022 Aug;43(8):5049-5056. Epub 2022 Apr 19 doi: 10.1007/s10072-022-06023-w. PMID: 35438352
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J
J Hum Genet 2019 Jan;64(1):11-16. Epub 2018 Nov 2 doi: 10.1038/s10038-018-0525-9. PMID: 30390020
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J, Wang Z, Hong D, Lv H, Zhang W, Chen J, Yuan Y
J Neurol Sci 2015 Jul 15;354(1-2):21-6. Epub 2015 Apr 27 doi: 10.1016/j.jns.2015.04.028. PMID: 25986339

Diagnosis

Gene analysis and clinical features of 22 GNE myopathy patients.
Guo X, Zhao Z, Shen H, Bing Q, Li N, Chen J, Hu J
Neurol Sci 2022 Aug;43(8):5049-5056. Epub 2022 Apr 19 doi: 10.1007/s10072-022-06023-w. PMID: 35438352
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Mishra SK, Valles-Ayoub Y, Darvish D, Khosa S, Moheb N, Trikamji B, Rafiei N, Freundlich R
J Clin Neuromuscul Dis 2019 Jun;20(4):210-213. doi: 10.1097/CND.0000000000000231. PMID: 31135625
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V
Eur J Hum Genet 2017 May;25(5):572-581. Epub 2017 Mar 15 doi: 10.1038/ejhg.2017.16. PMID: 28295036Free PMC Article
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J, Wang Z, Hong D, Lv H, Zhang W, Chen J, Yuan Y
J Neurol Sci 2015 Jul 15;354(1-2):21-6. Epub 2015 Apr 27 doi: 10.1016/j.jns.2015.04.028. PMID: 25986339
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
Choi ER, Park SJ, Choe YH, Ryu DR, Chang SA, Choi JO, Lee SC, Park SW, Kim BJ, Kim DK, Oh JK
J Cardiovasc Magn Reson 2010 May 24;12(1):31. doi: 10.1186/1532-429X-12-31. PMID: 20497525Free PMC Article

Prognosis

Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
Choi ER, Park SJ, Choe YH, Ryu DR, Chang SA, Choi JO, Lee SC, Park SW, Kim BJ, Kim DK, Oh JK
J Cardiovasc Magn Reson 2010 May 24;12(1):31. doi: 10.1186/1532-429X-12-31. PMID: 20497525Free PMC Article

Clinical prediction guides

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.
Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S
Ann Neurol 1997 Apr;41(4):432-7. doi: 10.1002/ana.410410405. PMID: 9124799
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).
Borg K, Tomé FM, Edström L
Acta Neuropathol 1991;82(2):102-6. doi: 10.1007/BF00293951. PMID: 1656692

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...