Disease #05837 (NEBDM (Nebulin related distal myopathy))

Official abbreviation NEBDM
Name Nebulin related distal myopathy
OMIM ID -
Inheritance Autosomal dominant, Autosomal recessive, Somatic mosaicism
Individuals reported having this disease 10
Phenotype entries for this disease 8
Associated with 1 gene NEB
Associated tissues skeletal muscle
Disease features -
Remarks -
Date created 2020-09-25 09:51:57 +02:00 (CEST)
Date last edited 2021-12-11 13:56:28 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00311420 Hki4763 2-generation family, 1 affected, unaffected non carrier parents PubMed: Sagath 2021 F no Finland - - - - - NEBDM see paper; ..., congenital asymmetric distal myopathy with hemifacial weakness NEB NEB 1 1 Vilma-Lotta Lehtokari
00396207 - - - - - France - - - - - NEBDM - - NEB 2 1 Svetlana Gorokhova
00437767 - PubMed: Sagath 2025 - - likely (Germany) Turkish - - - - NEBDM areflexia (HP:0001284); weakness of facial musculature (HP:0030319); proximal muscle weakness (HP:0003701) - NEB 1 2 Lydia Sagath
00440194 - PubMed: Sagath 2025, Henning et al. in preparation - - ? (South Africa) mixed - - - - NEBDM foot dorsiflexor weakness (HP:0009027); clumsiness (HP:0002312); frequent falls (HP:0002359); progressive muscle weakness (HP:0003323); reduced tendon reflexes (HP:0001315); distal muscle weakness (HP:0002460); muscle weakness (HP:0001324); weakness of facial muscles (HP:0030319); muscle fiber atrophy (HP:0100295) NEB NEB 1 11 Lydia Sagath
00441131 - PubMed: Sagath 2025, Henning et al. in preparation - - ? (South Africa) mixed - - - - NEBDM - NEB NEB 1 3 Lydia Sagath
00441132 - PubMed: Sagath 2025 - - no (United States) - - - - - NEBDM foot dorsiflexor weakness (HP:0009027); weak grip (HP:0033466); muscle fiber atrophy (HP:0100295); distal muscle weakness (HP:0002460); hypotonia (HP:0001252); progressive muscle weakness (HP:0003323); reduced tendon reflexes (HP:0001315); ptosis (HP:0000508) NEB NEB 1 2 Lydia Sagath
00441133 - PubMed: Sagath 2025 - M no (United States) caucasian - - - - NEBDM distal muscle weakness (HP:0002460); progressive muscle weakness (HP:0003323); feeding difficulties in infancy (HP:0008872); feeding difficulties (HP:0011968); hypotonia (HP:0001252) NEB NEB 1 1 Lydia Sagath
00441134 - PubMed: Sagath 2025 - - ? France - - - - - NEBDM distal muscle weakness (HP:0002460); progressive muscle weakness (HP:0003323); feeding difficulties in infancy (HP:0008872); feeding difficulties (HP:0011968); hypotonia (HP:0001252) NEB NEB 1 5 Lydia Sagath
00441135 - PubMed: Sagath 2025 - - no Germany - - - - - NEBDM hypotonia (HP:0001252);myalgia (HP:0003326);proximal muscle weakness (HP:0003701);muscle weakness (HP:0001324) NEB NEB 1 3 Lydia Sagath
00452782 - PubMed: Sagath 2025 - - no - - - - - - NEBDM - NEB NEB 1 1 Lydia Sagath
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