Disease #02840 (CMYO4B (myopathy, congenital, type 4B), OMIM:609284)

Official abbreviation CMYO4B
Name myopathy, congenital, type 4B
OMIM ID 609284
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene TPM3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-02-07 14:48:13 +01:00 (CET)


Individuals

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00419928 - PubMed: Pelin 2023 - M no Finland - <05y - - - CMYO4B Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687). CSDA, OBSL1, RYR1, SRPK3, TPM3 CSDA, RYR1, SRPK3, TNNT3, TPM3 8 1 Lydia Sagath
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