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DNA

THE GENES DON'T FIT WRITE!!

Having the CCDC78 Gene Mutation and Life before and after the Diagnosis of CNM4 - Centronuclar Myopathy Type 4

Welcome to my blog, THE GENES DON'T FIT WRITE !! A personal recount of the trials and tribulations my family and I have lived through as I fought for mine and my children's symptoms to be acknowledged by medical professionals; the harrowing, acute and often mysterious medical emergencies and hospitalizations we've all encountered, and the events leading up to finally earning the proper attention we needed in order to medically investigate; what would result in a diagnosis called Centronuclear Myopathy Type 4 - a Rare and New Muscular Anomaly that few doctors, including our Specialists, have ever even heard about!

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Function of CCDC78

The function of this gene is currently unknown. There is evidence that CCDC78 plays a role in skeletal muscle contraction. This is...

DOMS (Delayed Onset Muscle Soreness)

ABSTRACT (https://europepmc.org/abstract/med/6392811) Delayed-onset muscular soreness (DOMS), the sensation of pain and stiffness in the...

Just Some More Notes

MYOPATHY, CENTRONUCLEAR, 4; CNM4 CNM4; Centronuclear myopathy type 4 MYOPATHY, CENTRONUCLEAR, 4; CNM4 Is also known as ;Congenital...

Protein types and functions

Medical Definition of isoform. : any of two or more functionally similar proteins that have a similar but not identical amino acid...

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