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...
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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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WHY DOES ADVIL/IBUPROFEN WORK FOR MY PAIN ASSOCIATED TO MYOPATHY?! AND WHY DON'T DOCTORS SUPPORT IT?
Ibuprofen belongs to the class of medications known as nonsteroidal anti-inflammatory drugs (NSAIDs). It is used to treat fever and...
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...
Common Clinical Features and Patterns of the Sub-groups of Non-Dystrophic Myotonia
A. Myotonia typically develops after a short period of exercise e.g. 10 min or on resting after a period of exercise. B. This same...
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...
Autosomal Dominant Mutation of Gene CCDC78
This 222 bp is in-frame with the coding sequences from exons 1–2 and is predicted to produce a novel CCDC78 variant with an additional 74...
10 Essential Amino Acids – We can get These from our Food Sources
1. Isoleucine: is one of nine essential amino acids in humans (present in dietary proteins), Isoleucine has diverse physiological...
11 nonessential amino acids – Our Body Creates Them
1. Alanine - if too much beta-alanine is present in your body, it can get rid of it. Unfortunately this means a short lived bout of...
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