ORPHA:598

Multiminicore myopathy

Synonyms: MmD · Multiminicore disease

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

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Multiminicore myopathy	MmD · Multiminicore disease
fr	Myopathie à multi-minicores	Maladie à multi-minicores · MmD
de	Multiminicore-Myopathie	Multiminicore-Krankheit (MmD)
es	Miopatía multiminicore
it	Miopatia multiminicore
nl	Multiminicore-myopathie	MmD · Multiminicore-ziekte
pt	Miopatia multiminicore	Doença multiminicore
pl	Miopatia typu multiminicore	Choroba multiminicore · MmD
cs	Multi-mini core myopatie	MmD · Multi-mini core disease · Multi-mini jádrové onemocnění
uk	Мультимініядерна міопатія	MmD · Багатомініядерна хвороба
zh	多小核肌病	多微小轴空病
tr	Multiminikor miyopati	MmD · Multiminicore hastalığı

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	117000	NTBT		validated
OMIM	255320	BTNT		validated
OMIM	602771	BTNT		validated
ICD-10	G71.2	NTBT	inclusion	validated
ICD-11	8C72.0Y	NTBT	index	validated
MONDO	0018948	E		validated
UMLS	C0270962	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

Children (4):

0 direct · 5 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TTN	ORPHA:324604Classic multiminicore myopathy	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	24105469[PMID]
MYH7	ORPHA:324604Classic multiminicore myopathy	Disease-causing germline mutation(s) in	Assessed	HGNC:7577	ENSG00000092054	160760	14q11.2	myosin heavy chain 7	22784669[PMID]
RYR1	ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia	Disease-causing germline mutation(s) in	Assessed	HGNC:10483	ENSG00000196218	180901	19q13.2	ryanodine receptor 1	20301467[PMID]_12719381[PMID]_16380615[PMID]
RYR1	ORPHA:178145Moderate multiminicore disease with hand involvement	Disease-causing germline mutation(s) in	Assessed	HGNC:10483	ENSG00000196218	180901	19q13.2	ryanodine receptor 1	20301467[PMID]_12112081[PMID]
SELENON	ORPHA:324604Classic multiminicore myopathy	Disease-causing germline mutation(s) in	Assessed	HGNC:15999	ENSG00000162430	606210	1p36.11	selenoprotein N	12192640[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

21 annotations · validated 2018-06-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003789	Minicore myopathy
HP:0003560	Muscular dystrophy
HP:0003198	Myopathy
Frequent (79-30%)
HP:0004303	Abnormal muscle fiber morphology
HP:0003457	EMG abnormality
HP:0001508	Failure to thrive
HP:0001290	Generalized hypotonia
HP:0001382	Joint hypermobility
HP:0001387	Joint stiffness
HP:0008994	Proximal muscle weakness in lower limbs
HP:0008997	Proximal muscle weakness in upper limbs
HP:0002093	Respiratory insufficiency
HP:0002747	Respiratory insufficiency due to muscle weakness	Diagnostic criterion
HP:0002650	Scoliosis	Diagnostic criterion
HP:0004322	Short stature
HP:0003306	Spinal rigidity	Diagnostic criterion
HP:0000486	Strabismus
Occasional (29-5%)
HP:0002804	Arthrogryposis multiplex congenita
HP:0002460	Distal muscle weakness
HP:0000544	External ophthalmoplegia
HP:0002047	Malignant hyperthermia

Annotation source: 17631035[PMID]_22009146[PMID]