Details of Disease

Disease Name

Multiminicore myopathy

multiminicore disease; MmD; multicore myopathy; multicore disease

Definition

A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.

Disease Hierarchy

DISK51VP: Qualitative or quantitative defects of selenoprotein N1

DISD715V: Hereditary neurological disease

DISE6VYN: Multiminicore myopathy

Disease Identifiers

MONDO ID

MONDO_0018948

UMLS CUI

C0270962

MedGen ID

75731

Orphanet ID

598

SNOMED CT ID

55133004

General Information of Disease (ID: DISE6VYN)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RYR1	TTU5CIX	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Strong	Biomarker	[2]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNA	OT3SG7ZR	Limited	Biomarker	[3]
B4GAT1	OT5NH9TD	Strong	Biomarker	[4]
FKRP	OTMUZ7GH	Strong	Biomarker	[5]
FKTN	OTQ9GCXL	Strong	Biomarker	[6]
ITGA7	OTTBTAYW	Strong	Biomarker	[7]
LARGE1	OTUH7H9F	Strong	Biomarker	[8]
MEGF10	OTILSPJ6	Strong	Genetic Variation	[9]
POMGNT1	OTBNOUZC	Strong	Biomarker	[5]
SELENON	OTSGKO5M	Strong	Genetic Variation	[10]
TRDN	OTXVE9SF	Strong	Biomarker	[11]
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⏷ Show the Full List of 10 DOT(s)

References

1	Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004.
2	A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.J Biol Chem. 2006 Feb 24;281(8):4938-48. doi: 10.1074/jbc.M512578200. Epub 2005 Dec 21.
3	DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.Hum Mol Genet. 2012 Mar 1;21(5):1037-48. doi: 10.1093/hmg/ddr534. Epub 2011 Nov 16.
4	Dystroglycan organizes axon guidance cue localization and axonal pathfinding.Neuron. 2012 Dec 6;76(5):931-44. doi: 10.1016/j.neuron.2012.10.009.
5	Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Brain Pathol. 2016 Jul;26(4):465-78. doi: 10.1111/bpa.12306. Epub 2015 Oct 12.
6	Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.
7	61 and 71 integrins are required in Schwann cells to sort axons.J Neurosci. 2013 Nov 13;33(46):17995-8007. doi: 10.1523/JNEUROSCI.3179-13.2013.
8	Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.Mol Cell Neurosci. 2005 Oct;30(2):160-72. doi: 10.1016/j.mcn.2005.07.009.
9	Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.Muscle Nerve. 2016 Jun;53(6):984-8. doi: 10.1002/mus.25054. Epub 2016 Apr 25.
10	Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.
11	Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.J Neuropathol Exp Neurol. 2007 Jan;66(1):57-65. doi: 10.1097/NEN.0b013e31802d47ce.