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MOLECULAR & CELLULAR CLASSIFICATIONS
Adhesion molecules
Amyloid
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M-proteins
Muscle
Nerve
Axons: Peripheral
Biopsy pathology
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Intermediate filaments
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Muscle proteins
Connective tissue (Basal lamina)
Dystrophin & associated proteins
Myogenesis
Myokines
Myopathy-related
Neuromuscular junction
Structural & Contractile
Muscles & Nerves: Anatomy
Upper extremity
Lower extremity
Myelin & Schwann cell components
Neurotransmitters
Acetylcholine & ACh Receptors
Catecholamines
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Purines
:
Structure
Substance P and Tachykinins
Transmitter & Receptor Disorders
Nuclear envelope
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Peroxisomes
Spliceosomes (Pre-mRNA splicing)
Synaptic Proteins
Presynaptic
Postsynaptic
T-cells
Toxins
Muscle
Nerve
Snake venom
Trophic factors
Vitamins
Digenic Disorders
Myopathy
Myopathy
: Titin + SRPK3
Distal myopathy
: SQSTM1 + TIA1
FSHD syndromes: DUX4 +
FSHD2
: SMCHD1
FSHD3
: LRIF1
FSHD4
: DNMT3B
Myopathy + Cardiomyopathy
: TRIM63 + TRIM54
Myasthenia Gravis
Congenital
: AK9 + RAPSN
Neuropathy
Pain Insensitivity
: FAAH + FAAHP1
HMSN
: EGR2 + LITAF
Other
Atrial Standstill
: GJA5 + SCN5A
SCA17
: TBP + STUB1
Proteasome-Associated Autoinflammatory Syndrome
: PSMB8 + PSMA3 or PSMB4
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3/4/2024