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Muscular dystrophy-dystroglycanopathy, type C

MedGen UID:
945528
•Concept ID:
CN262500
•
Disease or Syndrome
Synonym: muscular dystrophy-dystroglycanopathy, type C
 
Monarch Initiative: MONDO:0000173
OMIM® Phenotypic series: PS609308

Recent clinical studies

Etiology

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Salam MAE, Salama K, Selim YMM, Saad M, Rady R, Alawbathani S, Schroeder S, Elmonem MA, Elkhateeb N
Ann Hum Genet 2023 Jul;87(4):166-173. Epub 2023 Mar 14 doi: 10.1111/ahg.12505. PMID: 36916508
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV
BMC Pediatr 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2. PMID: 30961548Free PMC Article
Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.
Bhattacharya S, Das A, Ghosh S, Dasgupta R, Bagchi A
Gene 2014 Mar 1;537(1):108-14. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.071. PMID: 24361964

Diagnosis

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Salam MAE, Salama K, Selim YMM, Saad M, Rady R, Alawbathani S, Schroeder S, Elmonem MA, Elkhateeb N
Ann Hum Genet 2023 Jul;87(4):166-173. Epub 2023 Mar 14 doi: 10.1111/ahg.12505. PMID: 36916508
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Mohammadi P, Daneshmand MA, Mahdieh N, Ashrafi MR, Heidari M, Garshasbi M
Acta Neurol Belg 2021 Feb;121(1):143-151. Epub 2020 Nov 11 doi: 10.1007/s13760-020-01527-8. PMID: 33175337
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV
BMC Pediatr 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2. PMID: 30961548Free PMC Article
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L, Banerjee S
J Cell Mol Med 2019 Feb;23(2):811-818. Epub 2018 Nov 18 doi: 10.1111/jcmm.13979. PMID: 30450679Free PMC Article
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C
Neuromuscul Disord 2018 Jul;28(7):614-618. Epub 2018 May 16 doi: 10.1016/j.nmd.2018.04.012. PMID: 29910097Free PMC Article

Therapy

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Salam MAE, Salama K, Selim YMM, Saad M, Rady R, Alawbathani S, Schroeder S, Elmonem MA, Elkhateeb N
Ann Hum Genet 2023 Jul;87(4):166-173. Epub 2023 Mar 14 doi: 10.1111/ahg.12505. PMID: 36916508

Prognosis

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C
Neuromuscul Disord 2018 Jul;28(7):614-618. Epub 2018 May 16 doi: 10.1016/j.nmd.2018.04.012. PMID: 29910097Free PMC Article
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D
Eur J Med Genet 2013 Dec;56(12):689-94. Epub 2013 Oct 10 doi: 10.1016/j.ejmg.2013.09.014. PMID: 24120487

Clinical prediction guides

Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.
Bhattacharya S, Das A, Ghosh S, Dasgupta R, Bagchi A
Gene 2014 Mar 1;537(1):108-14. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.071. PMID: 24361964

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