Disease #02795 (LGMDR10;LGMD2J (dystrophy, muscular, limb-girdle, autosomal recessive, type 10 (LGMD2J)), OMIM:608807)

Official abbreviation LGMDR10;LGMD2J
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 10 (LGMD2J)
OMIM ID 608807
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 32
Phenotype entries for this disease 31
Associated with 1 gene TTN
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-01-12 20:53:00 +01:00 (CET)


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00057949 - - 3 affecteds, homozygous - ? Finland - - - - - LGMDR10;LGMD2J severe TMD; IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced TTN TTN 4 3 Johan den Dunnen
00058350 - - - - - Finland - - - - - LGMDR10;LGMD2J - TTN TTN 1 1 Johan den Dunnen
00058351 - - - - - Finland - - - - - LGMDR10;LGMD2J - TTN TTN 1 1 Johan den Dunnen
00058352 - - - - - Finland - - - - - LGMDR10;LGMD2J - TTN TTN 1 1 Johan den Dunnen
00058353 - - - - - Finland - - - - - LGMDR10;LGMD2J - TTN TTN 1 1 Johan den Dunnen
00087088 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J Distal muscle weakness - TTN 2 1 Ana Topf
00087240 - PubMed: Peric 2017, Journal: Peric 2017 - F yes Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 1 1 Ana Topf
00087241 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087243 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087244 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 1 1 Ana Topf
00087245 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087247 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087248 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087250 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087251 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087252 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087253 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 1 1 Ana Topf
00087254 - PubMed: Peric 2017, Journal: Peric 2017 - M - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00087255 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - LGMDR10;LGMD2J - - TTN 2 1 Ana Topf
00213109 patient 3 submitted - M no Spain - - - - - LGMDR10;LGMD2J HP:0003560, HP:0003701, HP:0002460, HP:0003458, HP:0000007, HP:0003236, HP:0001638 TTN TTN 2 1 Ruiz Palomino Pilar
00299633 - - - F no Finland - >41y - - - LGMDR10;LGMD2J - - TTN 2 1 Marco Savarese
00299634 - - - F no Spain - >45y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 1 2 Marco Savarese
00299635 - - - F ? Spain - >55y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00299636 - - - M no Spain - >49y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 2 Marco Savarese
00299637 - - - F - France - - - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00300173 - - - F no Serbia - >42y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00300174 - - - F no - - >36y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00300175 - - - M no Spain - >47y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00300176 - - - M no Italy - >60y - - - LGMDR10;LGMD2J Childhood/early-adult onset distal myopathy - TTN 2 1 Marco Savarese
00300177 - - - M no China - >19y - - - LGMDR10;LGMD2J hyperCKemia - TTN 2 2 Marco Savarese
00332316 - - - - - France - - - - - LGMDR10;LGMD2J Limb-girdle muscular dystrophy HP:0006785 - TTN 2 1 Svetlana Gorokhova
00380795 ? PubMed: Nair 2018 - ? - Lebanon - - - - - LGMDR10;LGMD2J delayed motor development; muscular hypotonia; lactic acidosis (Neurological) - TTN 2 1 LOVD
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