Disease #01926 (MEOAL;MMDS8 (mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy), OMIM:251900)

Official abbreviation MEOAL;MMDS8
Name mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
OMIM ID 251900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 44
Phenotype entries for this disease 43
Associated with 1 gene FDX1L
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-11-25 10:11:25 +01:00 (CET)


Individuals

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00022414 25385316-FamPatII1 PubMed: Vanlander 2015, Journal: Vanlander 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F yes Morocco African >34y - - - MEOAL;MMDS8 myopathy characterized by proximal muscle weakness, severe amyotrophy, excessive fatigability, dysarthria, paresis of facial muscles and ptosis NARS2 NARS2 1 2 Arnaud Vanlander
00035071 - - - - - Germany - - - - - MEOAL;MMDS8 myalgia (belastungsabhängig), muscle stiffness CACNA1S CACNA1S 1 1 Andreas Laner
00035223 - - - - - Germany - - - - - MEOAL;MMDS8 myasthenia CHRND CHRND 1 1 Andreas Laner
00035227 - - - - - Germany - - - - - MEOAL;MMDS8 muscular hypotonia, developmental delay CHRND CHRND 1 1 Andreas Laner
00035229 - - - - - Germany - - - - - MEOAL;MMDS8 muscular hypotonia (aggravation with heat), mild CK-increase, path. rep. stimulation of N. accessorius bilateral, CHRNE CHRNE 1 1 Andreas Laner
00035256 - - - - - Germany - - - - - MEOAL;MMDS8 muscle stiffness and muscle pain CLCN1 CLCN1 1 1 Andreas Laner
00035318 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035321 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035323 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035327 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035328 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035329 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035330 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035331 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035332 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035333 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035334 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035335 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035336 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035337 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035338 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035340 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035341 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035342 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035343 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy COL4A1 COL4A1 1 1 Andreas Laner
00035356 - - - - - Germany - - - - - MEOAL;MMDS8 Multiple hemorrhagic porencephalic brain lesions, at birth transient platelet defiency with petechiae, mild facial dysmorphism COL4A1 COL4A1 1 1 Andreas Laner
00035811 - - - - - Germany - - - - - MEOAL;MMDS8 Muenke syndrome FGFR3 FGFR3 1 1 Andreas Laner
00035820 - - - - - Germany - - - - - MEOAL;MMDS8 mother: autosomal dominante hereditary leiomyomatosis FH FH 1 1 Andreas Laner
00036041 77186 - - M ? Libya - - - - - MD, MDC, MEOAL;MMDS8 , Muscular Dystrophy, no further information LAMA2 LAMA2 2 1 Andreas Laner
00036083 - - - - - Germany - - - - - MEOAL;MMDS8 myalgia LPIN1 LPIN1 1 1 Andreas Laner
00036241 - - - - - Germany - - - - - MEOAL;MMDS8 mother: Muir-Torre syndrome MSH2 MSH2 1 1 Andreas Laner
00036786 - - - - - Germany - - - - - MEOAL;MMDS8 mother healthy, result of daughter: suspected Dravet syndrome SCN1A SCN1A 1 1 Andreas Laner
00036925 - - - - - Germany - - - - - MEOAL;MMDS8 muscle disease SCN4A SCN4A 1 1 Andreas Laner
00036931 - - - - - Germany - - - - - MEOAL;MMDS8 mother: myotonia; son: muscle pain (cramps in hand- and foot muscles SCN4A SCN4A 1 1 Andreas Laner
00037009 - - - - - Germany - - - - - MEOAL;MMDS8 mitochondrial myopathy type I; succinat dehydrogenase deficiency SDHC SDHC 1 1 Andreas Laner
00037098 - - - - - Germany - - - - - MEOAL;MMDS8 moderate anemia,neutropenia, bilateral sensorineural deafness, heart disease SLC19A2 SLC19A2 1 1 Andreas Laner
00037223 - - - - - Germany - - - - - MEOAL;MMDS8 myasthenia, short stature, mikrocephaly, speech disorder, suspected Barth syndrome TAZ TAZ 1 1 Andreas Laner
00037308 - - - - - Germany - - - - - MEOAL;MMDS8 MNGIE TYMP TYMP 1 1 Andreas Laner
00037448 - - - - - Germany - - - - - MEOAL;MMDS8 Mowat-Wilson syndrome ZEB2 ZEB2 1 1 Andreas Laner
00037522 - Reinson (submitted) - F no Estonia - - - yes - MEOAL;MMDS8 severe congenital muscular hypotonia SLC25A4 SLC25A4 1 1 Sander Pajusalu
00087232 FamAPatII1 PubMed: Nasca 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - MEOAL;MMDS8 see paper; ..., congenital myopathy, ataxia, skeletal abnormalities, Cesarean section due tonon-reassuring fetal status, slight neonatal asphyxia (Apgar score 5/7), intact in first months after birth; severe growth delay, severe motor delay; severe growth impairment (<3rd percentile); no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pgmentary retinopathy, papillary pallor; triangular face, sunken eyes, chest asymmetry; raised CK (1200U/L); muscle biopsy myopathic; MRI global cerebellar hypotrophy, enlarged cisterna magna, hyperintense signals in the supra-tentorial periventricular and posterior white matter MSTO1 MSTO1 2 2 Daniele Ghezzi
00301614 - - affected patient with heteroplasmic variant in mitochondrial DNA M - Greece - 17y - - - MEOAL;MMDS8 - MT-ND6 - 1 1 Helen Latsoudis
00375185 FamBPatII2 PubMed: Nasca 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - MEOAL;MMDS8 see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres MSTO1 MSTO1 2 1 Johan den Dunnen
00375186 FamPatII1 PubMed: Gal 2017 2-generation family, affected mother, daughter and 2 sons F no Hungary - - - - - MEOAL;MMDS8 see paper; ..., mitochondrial myopathy, ataxia, muscle weakness; short stature (150 cm); no seizure; adiadochokinesia; ophthalmology normal; normal CK; muscle biopsy myopathic; frontal atrophy, enlarged interhemispheric fissure - MSTO1 1 4 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.